R3HDM2[gene] - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 48

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	ACAD10, ACADS +4836 more	Copy number gain	See cases	GPathogenic
Select item 59019	GRCh38/hg38 12q13.3-14.2(chr12:57013355-63042498)x1	AGAP2, AGAP2-AS1 +199 more	Copy number loss	See cases	GPathogenic
Select item 59020	GRCh38/hg38 12q13.3-14.1(chr12:57041158-60273934)x1	AGAP2, AGAP2-AS1 +162 more	Copy number loss	See cases	GPathogenic
Select item 3150516	NM_001394031.1(R3HDM2):c.2906G>A (p.Arg969His)	R3HDM2 (R1011H +11 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3150515	NM_001394031.1(R3HDM2):c.2813C>T (p.Ser938Leu)	R3HDM2 (S914L +11 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2388323	NM_001394031.1(R3HDM2):c.2773G>T (p.Gly925Trp)	R3HDM2 (G927W +11 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3150514	NM_001394031.1(R3HDM2):c.2756G>T (p.Gly919Val)	R3HDM2 (G905V +11 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2241208	NM_001394031.1(R3HDM2):c.2730G>C (p.Lys910Asn)	R3HDM2 (K910N +11 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3312022	NM_001394031.1(R3HDM2):c.2705C>T (p.Thr902Met)	R3HDM2 (T870M +11 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3150513	NM_001394031.1(R3HDM2):c.2537C>T (p.Thr846Met)	R3HDM2 (T832M +11 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2334325	NM_001394031.1(R3HDM2):c.2515C>T (p.Leu839Phe)	R3HDM2 (L841F +11 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2355829	NM_001394031.1(R3HDM2):c.2479C>T (p.Pro827Ser)	R3HDM2 (P795S +11 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2314370	NM_001394031.1(R3HDM2):c.2416A>T (p.Thr806Ser)	R3HDM2 (T848S +11 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2390321	NM_001394031.1(R3HDM2):c.2239T>C (p.Tyr747His)	R3HDM2 (Y745H +11 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 781083	NM_001394031.1(R3HDM2):c.2073C>T (p.Tyr691=)	R3HDM2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2391871	NM_001394031.1(R3HDM2):c.2008C>G (p.Pro670Ala)	R3HDM2 (P656A +11 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3312023	NM_001394031.1(R3HDM2):c.1903G>A (p.Val635Met)	R3HDM2 (V621M +11 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2608852	NM_001394031.1(R3HDM2):c.1781C>T (p.Pro594Leu)	R3HDM2 (P562L +11 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3150512	NM_001394031.1(R3HDM2):c.1780C>G (p.Pro594Ala)	R3HDM2 (P580A +11 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2318706	NM_001394031.1(R3HDM2):c.1738C>A (p.Gln580Lys)	R3HDM2 (Q588K +11 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2473434	NM_001394031.1(R3HDM2):c.1726A>T (p.Met576Leu)	R3HDM2 (M576L +11 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3312029	NM_001394031.1(R3HDM2):c.1646C>T (p.Pro549Leu)	R3HDM2 (P551L +11 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2394567	NM_001394031.1(R3HDM2):c.1643G>A (p.Arg548Gln)	R3HDM2 (R516Q +11 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3312028	NM_001394031.1(R3HDM2):c.1417T>C (p.Ser473Pro)	R3HDM2 (S475P +11 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3312024	NM_001394031.1(R3HDM2):c.1406C>T (p.Ala469Val)	R3HDM2 (A445V +11 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2290429	NM_001394031.1(R3HDM2):c.1362C>A (p.Asn454Lys)	R3HDM2 (N454K +11 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2557050	NM_001394031.1(R3HDM2):c.1345G>C (p.Ala449Pro)	R3HDM2 (A425P +11 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3150511	NM_001394031.1(R3HDM2):c.1301C>T (p.Thr434Met)	LOC126861540, R3HDM2 (T434M +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3150510	NM_001394031.1(R3HDM2):c.1282C>T (p.Leu428Phe)	LOC126861540, R3HDM2 (L414F +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2324388	NM_001394031.1(R3HDM2):c.1228C>T (p.Arg410Trp)	LOC126861540, R3HDM2 (R396W +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2597230	NM_001394031.1(R3HDM2):c.1126A>T (p.Ile376Phe)	R3HDM2 (I362F +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3150509	NM_001394031.1(R3HDM2):c.1066C>T (p.Pro356Ser)	R3HDM2 (P374S +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2480597	NM_001394031.1(R3HDM2):c.1066C>A (p.Pro356Thr)	R3HDM2 (P324T +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2549573	NM_001394031.1(R3HDM2):c.943A>T (p.Asn315Tyr)	R3HDM2 (N315Y +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2272598	NM_001394031.1(R3HDM2):c.938+130C>T	R3HDM2 (H292Y +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3150517	NM_001394031.1(R3HDM2):c.756A>T (p.Gln252His)	R3HDM2 (Q232H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3312030	NM_001394031.1(R3HDM2):c.285A>T (p.Leu95Phe)	R3HDM2 (L95F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3312025	NM_001394031.1(R3HDM2):c.272C>T (p.Ala91Val)	R3HDM2 (A91V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3312027	NM_001394031.1(R3HDM2):c.121A>G (p.Ile41Val)	R3HDM2 (I41V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3244244	NC_000012.11:g.(?_56711393)_(58190366_?)dup	SDR9C7, TSPAN31 +51 more	Duplication	Cataract 15 multiple types +3 more	GUncertain significance
Select item 2498574	GRCh37/hg19 12q13.3-14.1(chr12:57064059-59314016)x1	AGAP2, ARHGAP9 +45 more	Copy number loss	not provided	GLikely pathogenic
Select item 2422308	NC_000012.11:g.(?_57534470)_(58190366_?)dup	AGAP2, ARHGAP9 +27 more	Duplication	Familial melanoma	GUncertain significance
Select item 1808720	GRCh37/hg19 12q13.3-14.1(chr12:57631073-58236597)x1	AGAP2, ARHGAP9 +27 more	Copy number loss	not provided	GLikely pathogenic
Select item 815529	GRCh37/hg19 12q13.3-14.1(chr12:57582163-59031979)x1	AGAP2, ARHGAP9 +31 more	Copy number loss	not provided	GLikely pathogenic
Select item 815528	GRCh37/hg19 12q13.2-14.1(chr12:55552371-62126304)x3	AGAP2, ANKRD52 +105 more	Copy number gain	not provided	GPathogenic
Select item 441984	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)	SLC15A5, SLC16A7 +1006 more	Copy number gain	See cases	GPathogenic
Select item 441983	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3	A2M, A2ML1 +1006 more	Copy number gain	See cases	GPathogenic
Select item 268075	GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3	GALNT8, H2AJ +1007 more	Copy number gain	See cases	GPathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 48